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Chapter-02 Screening and Management of Congenital Anomalies

BOOK TITLE: Management of High-Risk Pregnancy—A Practical Approach

Author
1. Manisha
ISBN
9789380704739
DOI
10.5005/jp/books/11228_2
Edition
1/e
Publishing Year
2010
Pages
30
Author Affiliations
1. Lady Hardinge Medical College and SSK Hospital, New Delhi, India, ESI Hospital, New Delhi, India
Chapter keywords

Abstract

Approximately 3% of neonates have a major congenital malformation .Majority of birth defects occur in families with no prior history of birth defect. Prenatal diagnosis for only high-risk women fails to recognize most of the affected fetuses. Therefore antenatal screening tests are done to identify women at risk. Most fetal structures can be visualized at 12-13 weeks and this gestation age offers earliest opportunity to screen for fetal anomaly. Cardiac malformations are most common birth defects. Associated malformations with cardiologic malformations are seen in 10% of cases. Chromosomal abnormality is seen in 10–40%, Hence a detailed ultrasound evaluation and karyotyping is advised. Counseling of the patient after diagnosis should involve the description of malformation, possibility of surgical correction, chances of short- and long-term survival, quality of life expected after correction and hazards of surgery. Biochemical screening for neural tube defects (NTD) is done by maternal serum alfa fetoprotein estimation. The risk in the next pregnancy is 4% if neural tube defect (NTD) is due to a multifactorial cause. After birth of one affected child periconceptional administration of folic acid can reduce recurrence risk of NTD in the next baby in up to 70% cases. Genetic sonography is offered to high-risk patients and has a sensitivity of 50–93% for detecting fetal aneuploidy. There is need for examining fetus, stillbirth or neonate to arrive at etiological diagnosis for counseling regarding risk in next pregnancy. A photograph, infantogram, chromosomal study is indicated in presence of malformations, tissue directed histopathological examination is also required.

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